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Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

Lookup NU author(s): Professor Tim Goodship

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Author(s): Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Moriniere V, Williams P, Wong W, Rorsman P, Thakker RV

Publication type: Article

Publication status: Published

Journal: Human Molecular Genetics

Year: 2009

Volume: 18

Pages: 2963-74

ISSN (print): 0964-6906

ISSN (electronic): 1460-2083

Publisher: Oxford University Press

URL: http://dx.doi.org/10.1093/hmg/ddp235

DOI: 10.1093/hmg/ddp235

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